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List of works by Jennifer Hague

Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel NIPBL Pathogenic Variant

scientific article published on 19 March 2019

Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia

scientific article

Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation

scientific article published on 12 May 2017

Prenatal genetic diagnosis of Costello syndrome in a male fetus with recurrent HRAS mutation p.Gly12Ser.

scientific article

Small-Cell Carcinoma of the Ovary, Hypercalcemic Type-Genetics, New Treatment Targets, and Current Management Guidelines

scientific article published on 10 March 2020

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